EP3722443A1 - Novel markers for prenatal diagnosis and monitoring - Google Patents

Novel markers for prenatal diagnosis and monitoring Download PDF

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Publication number
EP3722443A1
EP3722443A1 EP19214593.6A EP19214593A EP3722443A1 EP 3722443 A1 EP3722443 A1 EP 3722443A1 EP 19214593 A EP19214593 A EP 19214593A EP 3722443 A1 EP3722443 A1 EP 3722443A1
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EP
European Patent Office
Prior art keywords
dna
genomic sequence
sequence
pregnancy
woman
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Pending
Application number
EP19214593.6A
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German (de)
English (en)
French (fr)
Inventor
Yuk Ming Dennis Lo
Rossa Wai Kwun Chiu
Stephen Siu Chung Chim
Chunming Ding
Shengnan Jin
Tracy Yuen Han Lee
Fiona Miu Fun Lun
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Chinese University of Hong Kong CUHK
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Chinese University of Hong Kong CUHK
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Publication of EP3722443A1 publication Critical patent/EP3722443A1/en
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/686—Polymerase chain reaction [PCR]
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2523/00—Reactions characterised by treatment of reaction samples
    • C12Q2523/10—Characterised by chemical treatment
    • C12Q2523/125—Bisulfite(s)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/154—Methylation markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Definitions

  • Chromosome 21 open reading frame 29 (C21orf29) The methylation profiles of C21orf29 from 2 maternal blood cell samples were compared with those of 1 first-trimester and 2 third-trimester placental tissue samples collected from normal pregnancies as well as 2 first-trimester placental tissue samples from pregnancies where the fetus had trisomy 21. Cloning and bisulfite sequencing were performed and the methylation indices of the studied CpG sites in the placental tissues and maternal blood cells are summarized in Figure 9 . In general, the placenta is hypermethylated when compared to maternal blood cells.
  • genomic contigs accession number, version, start and end nucleotide numbers
  • GenBank accession number, version, start and end nucleotide numbers
  • chromosome start and end nucleotide numbers

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Physics & Mathematics (AREA)
  • Microbiology (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Biomedical Technology (AREA)
  • Hematology (AREA)
  • Urology & Nephrology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Cell Biology (AREA)
  • Food Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • General Physics & Mathematics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
EP19214593.6A 2006-05-03 2007-05-03 Novel markers for prenatal diagnosis and monitoring Pending EP3722443A1 (en)

Applications Claiming Priority (6)

Application Number Priority Date Filing Date Title
US79745606P 2006-05-03 2006-05-03
US11/784,499 US7901884B2 (en) 2006-05-03 2007-04-06 Markers for prenatal diagnosis and monitoring
EP16156063.6A EP3085792B1 (en) 2006-05-03 2007-05-03 Novel markers for prenatal diagnosis and monitoring
EP11168611.9A EP2385142B1 (en) 2006-05-03 2007-05-03 Novel markers for prenatal diagnosis and monitoring
PCT/GB2007/001627 WO2007132167A2 (en) 2006-05-03 2007-05-03 Novel fetal markers for prenatal diagnosis and monitoring
EP07732660A EP2016191B1 (en) 2006-05-03 2007-05-03 Novel fetal markers for prenatal diagnosis and monitoring

Related Parent Applications (4)

Application Number Title Priority Date Filing Date
EP16156063.6A Division EP3085792B1 (en) 2006-05-03 2007-05-03 Novel markers for prenatal diagnosis and monitoring
EP16156063.6A Division-Into EP3085792B1 (en) 2006-05-03 2007-05-03 Novel markers for prenatal diagnosis and monitoring
EP11168611.9A Division EP2385142B1 (en) 2006-05-03 2007-05-03 Novel markers for prenatal diagnosis and monitoring
EP07732660A Division EP2016191B1 (en) 2006-05-03 2007-05-03 Novel fetal markers for prenatal diagnosis and monitoring

Publications (1)

Publication Number Publication Date
EP3722443A1 true EP3722443A1 (en) 2020-10-14

Family

ID=38694260

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Application Number Title Priority Date Filing Date
EP19214593.6A Pending EP3722443A1 (en) 2006-05-03 2007-05-03 Novel markers for prenatal diagnosis and monitoring
EP16156063.6A Active EP3085792B1 (en) 2006-05-03 2007-05-03 Novel markers for prenatal diagnosis and monitoring
EP11168611.9A Active EP2385142B1 (en) 2006-05-03 2007-05-03 Novel markers for prenatal diagnosis and monitoring
EP07732660A Active EP2016191B1 (en) 2006-05-03 2007-05-03 Novel fetal markers for prenatal diagnosis and monitoring

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EP16156063.6A Active EP3085792B1 (en) 2006-05-03 2007-05-03 Novel markers for prenatal diagnosis and monitoring
EP11168611.9A Active EP2385142B1 (en) 2006-05-03 2007-05-03 Novel markers for prenatal diagnosis and monitoring
EP07732660A Active EP2016191B1 (en) 2006-05-03 2007-05-03 Novel fetal markers for prenatal diagnosis and monitoring

Country Status (13)

Country Link
US (1) US7901884B2 (ko)
EP (4) EP3722443A1 (ko)
JP (1) JP2009535050A (ko)
KR (5) KR102166398B1 (ko)
CN (3) CN107354218B (ko)
AU (1) AU2007251351B2 (ko)
CA (1) CA2651051C (ko)
EA (1) EA014274B1 (ko)
HK (1) HK1126250A1 (ko)
IL (2) IL194984A (ko)
MX (1) MX2008013930A (ko)
NZ (2) NZ596951A (ko)
WO (1) WO2007132167A2 (ko)

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